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FNDC1 fibronectin type III domain containing 1 [ Homo sapiens (human) ]

Gene ID: 84624, updated on 27-Nov-2024

Summary

Official Symbol
FNDC1provided by HGNC
Official Full Name
fibronectin type III domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21184
See related
Ensembl:ENSG00000164694 MIM:609991; AllianceGenome:HGNC:21184
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGS8; FNDC2; MEL4B3; bA243O10.1; dJ322A24.1
Summary
Predicted to act upstream of or within several processes, including cellular response to hypoxia; positive regulation of cardiac muscle cell apoptotic process; and positive regulation of protein phosphorylation. Predicted to be located in cell-cell junction; mitochondrial membrane; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in gall bladder (RPKM 10.5), thyroid (RPKM 9.5) and 12 other tissues See more
Orthologs
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Genomic context

See FNDC1 in Genome Data Viewer
Location:
6q25.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159169400..159272108)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160415015..160517654)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159590432..159693140)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TAGAP antisense RNA 1 Neighboring gene MPRA-validated peak6279 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25382 Neighboring gene MPRA-validated peak6280 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:159461684-159462883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25383 Neighboring gene uncharacterized LOC112267968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25384 Neighboring gene T cell activation RhoGTPase activating protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25385 Neighboring gene uncharacterized LOC124901449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25386 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159538123-159538330 Neighboring gene VISTA enhancer hs2576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:159591287-159591786 Neighboring gene Sharpr-MPRA regulatory region 9512 Neighboring gene FNDC1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159659176-159659360 Neighboring gene FNDC1 intronic transcript 1 Neighboring gene MPRA-validated peak6281 silencer Neighboring gene uncharacterized LOC105378084 Neighboring gene long intergenic non-protein coding RNA 2529

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
fibronectin type III domain-containing protein 1
Names
activation-associated cDNA protein
expressed in synovial lining protein
fibronectin type III domain containing 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032532.3NP_115921.2  fibronectin type III domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_115921.2

    Status: VALIDATED

    Source sequence(s)
    AL356417, AL590551, DQ009660
    Consensus CDS
    CCDS47512.1
    UniProtKB/Swiss-Prot
    A6H8X2, B7ZBR4, B7ZBR5, B9EK49, Q4ZHG4, Q5JPI0, Q5VU31, Q5VU32, Q5VXX4, Q70CQ6, Q96JG1
    UniProtKB/TrEMBL
    J3KNQ2
    Related
    ENSP00000297267.9, ENST00000297267.14
    Conserved Domains (2) summary
    smart00060
    Location:40120
    FN3; Fibronectin type 3 domain
    cd00063
    Location:16581749
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    159169400..159272108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536190.3XP_011534492.1  fibronectin type III domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    J3KNQ2
    Conserved Domains (2) summary
    smart00060
    Location:40120
    FN3; Fibronectin type 3 domain
    cd00063
    Location:16351726
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  2. XM_011536191.3XP_011534493.1  fibronectin type III domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    J3KNQ2
    Conserved Domains (2) summary
    smart00060
    Location:41124
    FN3; Fibronectin type 3 domain
    cd00063
    Location:15411632
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160415015..160517654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356563.1XP_054212538.1  fibronectin type III domain-containing protein 1 isoform X1

  2. XM_054356564.1XP_054212539.1  fibronectin type III domain-containing protein 1 isoform X2